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Results 31-40 of 92 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2010Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndromeGecz, J.
2004Genetic architecture of idiopathic generalized epilepsy: Clinical genetic analysis of 55 multiplex familiesMarini, C.; Scheffer, I.; Crossland, K.; Grinton, B.; Phillips, F.; McMahon, J.; Turner, S.; Dean, J.; Kivity, S.; Mazarib, A.; Neufeld, M.; Korczyn, A.; Harkin, L.; Dibbens, L.; Wallace, R.; Mulley, J.; Berkovic, S.
2008Prader Willi Syndrome and excessive daytime sleepinessCamfferman, D.; McEvoy, R.; O'Donoghue, F.; Lushington, K.
2007Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapyKarageorgos, L.; Brooks, D.; Harmatz, P.; Ketteridge, D.; Pollard, A.; Melville, E.; Parkinson-Lawrence, E.; Clements, P.; Hopwood, J.
1998IgG subclass antibodies to glutamic acid decarboxylase and risk for progression to clinical insulin-dependent diabetesCouper, J.; Harrison, L.; Aldis, J.; Colman, P.; Honeyman, M.; Ferrante, A.
2000Breast cancer screening uptake in women at increased risk of developing hereditary breast cancerMeiser, B.; Butow, P.; Barratt, A.; Friedlander, M.; Kirk, J.; Gaff, C.; Haan, E.; Aittomaki, K.; Tucker, K.
2005Sleep-disordered breathing in Prader-Willi syndrome and its association with neurobehavioral abnormalitiesO'Donoghue, F.; Camfferman, D.; Kennedy, J.; Martin, A.; Couper, T.; Lack, L.; Lushington, K.; McEvoy, R.
2011A novel method for the nonradiological assessment of ineffective swallowingOmari, T.; Dejaeger, E.; Van Beckevoort, D.; Goeleven, A.; de Cock, P.; Hoffman, I.; Smet, M.; Davidson, G.; Tack, J.; Rommel, N.
2003Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4Shaw, M.; Brunetti-Pierre, N.; Kadasi, L.; Kovacova, V.; van Maldergem, L.; De Brasi, D.; Salerno, M.; Gecz, J.
2001Long-term outcomes of genetic counseling in women at increased risk of developing hereditary breast cancerMeiser, B.; Butow, P.; Barratt, A.; Schneiden, V.; Gattas, M.; Kirk, J.; Gaff, C.; Suthers, G.; Tucker, K.

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